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1 Ergebnisse
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Transcriptome-based variant calling and aberrant mRNA disco..:
Hong, Sung Eun
;
Kneissl, Jana
;
Cho, Anna
...
Journal of Medical Genetics. 59 (2022) 11 - p. 1075-1081 , 2022
Link:
https://doi.org/10.1136/jmedgenet-2021-108307
RT Journal T1
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases
UL https://suche.suub.uni-bremen.de/peid=cr-10.1136_jmedgenet-2021-108307&Exemplar=1&LAN=DE A1 Hong, Sung Eun A1 Kneissl, Jana A1 Cho, Anna A1 Kim, Man Jin A1 Park, Soojin A1 Lee, Jeongeun A1 Woo, Sijae A1 Kim, Sora A1 Kim, Jun-Soon A1 Kim, Soo Yeon A1 Jung, Sungwon A1 Kim, Jinkuk A1 Shin, Je-Young A1 Chae, Jong-Hee A1 Choi, Murim PB BMJ YR 2022 SN 0022-2593 SN 1468-6244 JF Journal of Medical Genetics VO 59 IS 11 SP 1075 OP 1081 LK http://dx.doi.org/https://doi.org/10.1136/jmedgenet-2021-108307 DO https://doi.org/10.1136/jmedgenet-2021-108307 SF ELIB - SuUB Bremen
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